Generation and characterization of a human-derived iPSC line (HZSMHCi003-A) from a male child with fragile X syndrome

This study reports the successful establishment of induced pluripotent stem cells (iPSCs) derived from a pediatric patient with Fragile X Syndrome (FXS), representing a valuable cellular model for studying the most prevalent hereditary form of intellectual disability. Blood samples were collected from an 8-year-old Han Chinese male presenting with intellectual disability and carrying a full FMR1 gene mutation (>200 CGG repeat expansion). A stable iPSC line designated HZSMHCi003-A was generated using episomal vector-mediated reprogramming with seven transcription factors (OCT4, SOX2, NANOG, LIN28, c-MYC, KLF4, and SV40LT). Comprehensive characterization confirmed normal chromosomal integrity, robust expression of pluripotency-associated markers, and tri-lineage differentiation potential as evidenced by teratoma formation assays. This FXS patient-derived iPSC line provides a unique platform for investigating neurodevelopmental pathophysiology and screening potential therapeutic interventions for intellectual disability associated with FMR1 dysfunction.